Gene "ABCC1"
Found 3 records
Gene information
Gene symbol:
ABCC1
See related:
Ensembl: ENSG00000103222, Gene ID: 4363
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
2 
Vriant:
2 
Reference:
3 
Effect type:
Expressivity(3)  
Modifier effect:
Altered response to leukotriene modifiers(1) ,Altered response to zileuton and montelukast therapy(1) ,Altered severity(1)  
Details：
  • Variant 1:
    ABCC1:g.15983174C>G
    Gene:
    ABCC1
    Genomic location:
    dbSNP ID:
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.01 
    Effect:
    The potential role of ABCC1 promoter as a modifier gene deserves further study.
    Reference:
    PMID21435954
    Title:
    Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis.
    Species studied:
    Human
    Abstract:
    A 5'FR/G-260C (NCBI reference: 010393.16:g.15983174C>G) functional polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) promoter has been reported which influences ABCC1 expression including inflammatory related events. We aimed at investigating the impact of this polymorphism on the severity of CF disease. In this multicentric study, key clinical features of 203 CF patients homozygous for the F508del mutation were recorded. Kaplan-Meier analysis showed that patients with the rare CC genotype were chronically colonized by PA around 6 years earlier (mean ± SD: 11.2 year ± 7.8, 95% CI for the mean: 5.7-16.8) than those with the GG or the CG alleles (p<=0.01) and a FEV1 <60% predicted was first observed earlier in this group (p<0.05). Concordant trends to better nutritional status and FEV1 were observed in the slightly older GG subgroup. The potential role of ABCC1 promoter as a modifier gene deserves further study.
  • Variant 2:
    ABCC1:c.49-14840C>T
    Gene:
    ABCC1
    Genomic location:
    chr16:16086833
    dbSNP ID:
    rs119774
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to leukotriene modifiers 
    Evidence:
    From review article 
    Effect:
    Variants in ALOX5, LTA4H, LTC4S, ABCC1, CYSLTR2, and SLCO2B1 contribute to variability in response to leukotriene modifiers
    Reference:
    PMID19077707
    Title:
    Pharmacogenetics of asthma.
    Species studied:
    Human
    Abstract:
    Patient response to the asthma drug classes, bronchodilators, inhaled corticosteroids and leukotriene modifiers, are characterized by a large degree of heterogeneity, which is attributable in part to genetic variation. Herein, we review and update the pharmacogenetics and pharmaogenomics of common asthma drugs.
  • Variant 3:
    ABCC1:c.49-14840C>T
    Gene:
    ABCC1
    Genomic location:
    chr16:16086833
    dbSNP ID:
    rs119774
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to zileuton and montelukast therapy 
    Evidence:
    From review article 
    Effect:
    Mutations in MRP1 Causes a differential response to zileuton and montelukast therapy
    Reference:
    PMID22455494
    Title:
    Genetic basis for personalized medicine in asthma.
    Species studied:
    Human
    Abstract:
    There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.